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ETFRF1 electron transfer flavoprotein regulatory factor 1 [ Homo sapiens (human) ]

Gene ID: 144363, updated on 5-Mar-2024

Summary

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Official Symbol
ETFRF1provided by HGNC
Official Full Name
electron transfer flavoprotein regulatory factor 1provided by HGNC
Primary source
HGNC:HGNC:27052
See related
Ensembl:ENSG00000205707 AllianceGenome:HGNC:27052
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LYRM5
Summary
Involved in respiratory electron transport chain. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 14.3), adrenal (RPKM 11.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12p12.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (25195237..25205143)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (25066455..25076393)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (25348171..25358077)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inositol 1,4,5-triphosphate receptor associated 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26648 Neighboring gene centromere protein U pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:25288649-25289148 Neighboring gene dynein axonemal intermediate chain 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:25321883-25322516 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:25323195-25323341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6115 Neighboring gene uncharacterized LOC124902899 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26705 Neighboring gene KRAS proto-oncogene, GTPase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6116 Neighboring gene NFE2L2 motif-containing MPRA enhancer 301/302 Neighboring gene uncharacterized LOC105369701

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
  2. Variability in Streptavidin-Sepharose Matrix Quality Can Significantly Affect Proximity-Dependent Biotinylation (BioID) Data. St-Germain JR, et al. J Proteome Res, 2020 Aug 7. PMID 32628020
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in respiratory electron transport chain IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in respiratory electron transport chain IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
electron transfer flavoprotein regulatory factor 1
Names
LYR motif containing 5
LYR motif-containing protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001001660.3 → NP_001001660.2  electron transfer flavoprotein regulatory factor 1

    See identical proteins and their annotated locations for NP_001001660.2

    Status: VALIDATED

    Source sequence(s)
    AC092794, BC071769, BC100276, BG771497, DA502833
    Consensus CDS
    CCDS53764.1
    UniProtKB/Swiss-Prot
    J3KPI7, Q6IPR1
    Related
    ENSP00000370761.4, ENST00000381356.9
    Conserved Domains (1) summary
    cd20265
    Location:22 → 81
    Complex1_LYR_ETFRF1_LYRM5; LYR (leucine-tyrosine-arginine) motif found in electron transfer flavoprotein regulatory factor 1 (ETFRF1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    25195237..25205143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253319.5 → XP_005253376.1  electron transfer flavoprotein regulatory factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005253376.1

    UniProtKB/Swiss-Prot
    J3KPI7, Q6IPR1
    Related
    ENSP00000450584.2, ENST00000557540.7
    Conserved Domains (1) summary
    cd20265
    Location:22 → 81
    Complex1_LYR_ETFRF1_LYRM5; LYR (leucine-tyrosine-arginine) motif found in electron transfer flavoprotein regulatory factor 1 (ETFRF1) and similar proteins

  2. XM_005253320.5 → XP_005253377.1  electron transfer flavoprotein regulatory factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005253377.1

    UniProtKB/Swiss-Prot
    J3KPI7, Q6IPR1
    Related
    ENSP00000452146.2, ENST00000556351.6
    Conserved Domains (1) summary
    cd20265
    Location:22 → 81
    Complex1_LYR_ETFRF1_LYRM5; LYR (leucine-tyrosine-arginine) motif found in electron transfer flavoprotein regulatory factor 1 (ETFRF1) and similar proteins

  3. XM_017018850.3 → XP_016874339.1  electron transfer flavoprotein regulatory factor 1 isoform X1

    UniProtKB/Swiss-Prot
    J3KPI7, Q6IPR1
    Conserved Domains (1) summary
    cd20265
    Location:22 → 81
    Complex1_LYR_ETFRF1_LYRM5; LYR (leucine-tyrosine-arginine) motif found in electron transfer flavoprotein regulatory factor 1 (ETFRF1) and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    25066455..25076393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371169.1 → XP_054227144.1  electron transfer flavoprotein regulatory factor 1 isoform X1

    UniProtKB/Swiss-Prot
    J3KPI7, Q6IPR1

  2. XM_054371170.1 → XP_054227145.1  electron transfer flavoprotein regulatory factor 1 isoform X1

    UniProtKB/Swiss-Prot
    J3KPI7, Q6IPR1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IPR1.2 GenPept UniProtKB/Swiss-Prot:Q6IPR1

Gene LinkOut

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